Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy.

Publikation

Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy.

Wissenschaftlicher Artikel/Review - 18.04.2020

Schijven Dick, Stevelink Remi, McCormack Mark, van Rheenen Wouter, Luykx Jurjen J, Koeleman Bobby P C, Veldink Jan H, Project MinE ALS GWAS Consortium, International League Against Epilepsy Consortium on Complex Epilepsies

Zitation

Schijven D, Stevelink R, McCormack M, van Rheenen W, Luykx J, Koeleman B, Veldink J, Project MinE ALS GWAS Consortium, International League Against Epilepsy Consortium on Complex Epilepsies. Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy. Neurobiol Aging 2020; 92:153.e1-153.e5.

Art

Wissenschaftlicher Artikel/Review (Englisch)

Zeitschrift

Neurobiol Aging 2020; 92

Veröffentlichungsdatum

18.04.2020

eISSN (Online)

1558-1497

Seiten

153.e1-153.e5

Kurzbeschreibung/Zielsetzung

Because hyper-excitability has been shown to be a shared pathophysiological mechanism, we used the latest and largest genome-wide studies in amyotrophic lateral sclerosis (n = 36,052) and epilepsy (n = 38,349) to determine genetic overlap between these conditions. First, we showed no significant genetic correlation, also when binned on minor allele frequency. Second, we confirmed the absence of polygenic overlap using genomic risk score analysis. Finally, we did not identify pleiotropic variants in meta-analyses of the 2 diseases. Our findings indicate that amyotrophic lateral sclerosis and epilepsy do not share common genetic risk, showing that hyper-excitability in both disorders has distinct origins.